1,338,924 results match your criteria: "Genetic Variation"

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The UGT2A1/UGT2A2 locus is associated with COVID-19-related loss of smell or taste.
Janie F Shelton, Anjali J Shastri, Kipper Fletez-Brant, , Stella Aslibekyan

February 2022

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Telomeres, aging, and cancer: the big picture.
Peter M Lansdorp

February 2022

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LINE-1 expression in cancer correlates with p53 mutation, copy number alteration, and S phase checkpoint.
Wilson McKerrow, Xuya Wang, Carlos Mendez-Dorantes, Paolo Mita, Song Cao

Proc Natl Acad Sci U S A· February 2022

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Microbiome differential abundance methods produce different results across 38 datasets.
Jacob T Nearing, Gavin M Douglas, Molly G Hayes, Jocelyn MacDonald, Dhwani K Desai

Nat Commun· January 2022

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Heterologous infection and vaccination shapes immunity against SARS-CoV-2 variants.
Catherine J Reynolds, Joseph M Gibbons, Corinna Pade, Kai-Min Lin, Diana Muñoz Sandoval

January 2022

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Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy.
Manisha Korb, Allison Peck, Lindsay N Alfano, Kenneth I Berger, Meredith K James

Orphanet J Rare Dis· January 2022

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Association of CYP2B6 genetic polymorphisms with bupropion and hydroxybupropion exposure: A systematic review and meta-analysis.
Seenae Eum, Franklin Sayre, Adam M Lee, Julia C Stingl, Jeffrey R Bishop

Pharmacotherapy· January 2022

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Omicron SARS-CoV-2 variant: a new chapter in the COVID-19 pandemic.
Salim S Abdool Karim, Quarraisha Abdool Karim

December 2021

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Case report of neurofibromatosis type 1 combined with primary ciliary dyskinesia.
Chun Bian, Xinyue Zhao, Yaping Liu, Minjiang Chen, Shuying Zheng

Front Med· December 2021

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Evolutionary Pathways and Trajectories in Antibiotic Resistance.
F Baquero, J L Martínez, V F Lanza, J Rodríguez-Beltrán, J C Galán

Clin Microbiol Rev· December 2021

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Further insight into the global variability of the OCA2-HERC2 locus for human pigmentation from multiallelic markers.
Philippe Suarez, Karine Baumer, Diana Hall

Sci Rep· November 2021

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KRAS mutation: from undruggable to druggable in cancer.
Lamei Huang, Zhixing Guo, Fang Wang, Liwu Fu

Signal Transduct Target Ther· November 2021

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Replication and single-cycle delivery of SARS-CoV-2 replicons.
Inna Ricardo-Lax, Joseph M Luna, Tran Thi Nhu Thao, Jérémie Le Pen, Yingpu Yu

November 2021

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Targeting strategies for oxaliplatin-induced peripheral neuropathy: clinical syndrome, molecular basis, and drug development.
Yang Yang, Bing Zhao, Xuejiao Gao, Jinbing Sun, Juan Ye

J Exp Clin Cancer Res· October 2021

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Structural basis of terephthalate recognition by solute binding protein TphC.
Trishnamoni Gautom, Dharmendra Dheeman, Colin Levy, Thomas Butterfield, Guadalupe Alvarez Gonzalez

October 2021

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Through 40,000 years of human presence in Southern Europe: the Italian case study.
Serena Aneli, Matteo Caldon, Tina Saupe, Francesco Montinaro, Luca Pagani

Hum Genet· October 2021

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The avian W chromosome is a refugium for endogenous retroviruses with likely effects on female-biased mutational load and genetic incompatibilities.
Valentina Peona, Octavio M Palacios-Gimenez, Julie Blommaert, Jing Liu, Tri Haryoko

September 2021

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Ancient and modern genomes unravel the evolutionary history of the rhinoceros family.
Shanlin Liu, Michael V Westbury, Nicolas Dussex, Kieren J Mitchell, Mikkel-Holger S Sinding

September 2021

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Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing.
Li Tai Fang, Bin Zhu, Yongmei Zhao, Wanqiu Chen, Zhaowei Yang

September 2021

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Evidence that toxin resistance in poison birds and frogs is not rooted in sodium channel mutations and may rely on "toxin sponge" proteins.
Fayal Abderemane-Ali, Nathan D Rossen, Megan E Kobiela, Robert A Craig, Catherine E Garrison

J Gen Physiol· September 2021

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Coffee Consumption and Incident Tachyarrhythmias: Reported Behavior, Mendelian Randomization, and Their Interactions.
Eun-Jeong Kim, Thomas J Hoffmann, Gregory Nah, Eric Vittinghoff, Francesca Delling

September 2021

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Mechanism of molnupiravir-induced SARS-CoV-2 mutagenesis.
Florian Kabinger, Carina Stiller, Jana Schmitzová, Christian Dienemann, Goran Kokic

Nat Struct Mol Biol· September 2021

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Gene Erosion Can Lead to Gain-of-Function Alleles That Contribute to Bacterial Fitness.
Julien Mortier, Elisa Gayán, Ronald Van Eyken, Oscar Enrique Torres Montaguth, Ladan Khodaparast

August 2021

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A genomic surveillance framework and genotyping tool for Klebsiella pneumoniae and its related species complex.
Margaret M C Lam, Ryan R Wick, Stephen C Watts, Louise T Cerdeira, Kelly L Wyres

Nat Commun· July 2021

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Histories and cultures of mental health in Modern East Asia: New directions.
Emily Baum, Howard Chiang

J Hist Behav Sci· July 2021

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SARS-CoV-2 mRNA vaccination induces functionally diverse antibodies to NTD, RBD, and S2.
Fatima Amanat, Mahima Thapa, Tinting Lei, Shaza M Sayed Ahmed, Daniel C Adelsberg

July 2021

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Identification of a High-Frequency Intrahost SARS-CoV-2 Spike Variant with Enhanced Cytopathic and Fusogenic Effects.
Lynda Rocheleau, Geneviève Laroche, Kathy Fu, Corina M Stewart, Abdulhamid O Mohamud

June 2021

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Accelerated Identification and Preliminary Validation of a Pathogenic Missense Variant in the L1CAM Gene in a Pregnant Woman With Sonographic Anomalies Using AlphaMissense.
Zhihui Wang, Xuna Shen, Chenyang Xu, Rongyue Wang, Chendi Teng

Mol Genet Genomic Med· December 2025

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QTL mapping for hundred-seed weight in soybean using high-density SLAF-seq technology.
Chunlei Zhang, Huilong Hong, Rongqiang Yuan, Kezhen Zhao, Bire Zha

BMC Plant Biol· December 2025

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Significant clinical and radiologic response to targeted therapy in pediatric cervicomedullary low-grade gliomas harboring the BRAFV600E mutation.
G Abebe Campino, S Shrot, S Constantini, J Roth, A Toren

Childs Nerv Syst· December 2025

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A novel NKX2-1 frameshift variant expanding the genetic landscape of benign hereditary chorea.
Simone Aloisio, Martina De Riggi, Adriana Martini, Sofia Grandolfo, Daniele Birreci

Neurol Sci· December 2025

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Identification of TaqW-6AS, a novel gene controlling WE-AX content in wheat grain.
Qiong Li, Zhankui Zeng, Yue Zhao, Junge Bi, Lei Dong

Theor Appl Genet· December 2025

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CSF3R Mutations Imply Adverse Prognostic Impact in Adult Acute Myeloid Leukemia Patients: A Single-Center Retrospective Study.
Jinjun Yang, Lian Wang, Min Zhu, Xinrong Xiang, Yu Wu

Cancer Med· December 2025

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Rare Coexistence of Hemoglobin D-Iran and Hemoglobin S in a Case from Central India.
Priya Rani, Amol Moon, Umesh Dhumne, Naga Muralidhar Merugu, Swapnil Chandekar

Hemoglobin· November 2025

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Nonsense Variant in the β-Spectrin Gene Causing Hereditary Spherocytosis Identified by Whole-Exome Sequencing in a Child.
Ai- Yang, Ti-Long Huang, Chun-Yan Song, Zu-Gang Xiao, Yun-Bi Lin

Hemoglobin· November 2025

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Genetic evaluation and clinical management of subsequent pregnancies based on previous adverse obstetric history.
Jie Liang, Yu Han, Lin Zhang, Yunmeng Qi, Jiebin Wu

J Matern Fetal Neonatal Med· December 2026

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"Fertile" Mutations in SARS-CoV-2 RNA More Frequently Occurred in Hairpin Loops That Determine Virus Evolution.
Philippe Colson, Pierre Pontarotti, Jacques Fantini, Anthony Levasseur, Christian Devaux

APMIS· December 2025

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Neonatal severe hypertriglyceridaemia: A novel lipoprotein lipase gene splicing variant.
P Anil Kumar, Hari Prasath C

BMJ Case Rep· December 2025

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Cell-type-specific genetic architecture of postpartum depression: A single-cell Mendelian randomization framework for causal gene discovery.
Ya-Jing Huang, Qiu-Han Xu, Ke-Wei Chen, Huai-Fang Li, Yang Yang

J Affect Disord· December 2025

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Extracellular vesicle microRNAs as an epigenetic biosignature of arsenic-associated diabetes in the Strong Heart Study.
Christian K Dye, Allison Kupsco, Gabriela L Jackson, Ronald A Glabonjat, Abbas Hakim

Environ Res· December 2025

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Novel FKBP10 Mutation in Iranian Patients with Osteogenesis Imperfecta: Insights from Whole-Exome Sequencing to Molecular Dynamics.
Moslem Hoseinbeyki, Shirin Moradifard, Fatemeh Mirkhani, Fatemeh Sadat Shariati, Parastoo Ehsani

Iran Biomed J· November 2025

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The association between APOA1 (rs5069) gene polymorphism and insulin resistance surrogates and metabolic indices among obese individuals with different glycemic statuses (euglycemic and T2DM).
Nagla Usama, Amr E Ahmed, Salma Mekheimer, Khaled Elhadidy, Mahmoud Farid

Sci Rep· December 2025

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Epigenetics of glaucoma in the trabecular meshwork.
Zhihao Liu, Yajuan Zheng, Jing Zhao

Clin Epigenetics· December 2025

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Chromosomal variations and evolution in Arachis species revealed by single-copy FISH karyotyping.
Guoquan Chen, Qian Wang, Haojie Sun, Liuyang Fu, Xiaobo Wang

Theor Appl Genet· December 2025

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Genome-wide variation reveal that goats were introduced into Asia via multiple migrations.
Takahiro Yonezawa, Jiaqi Wu, Ryo Masuko, Kenta Iso, Yuto Nomura

Sci Rep· December 2025

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Kinetochore mutations and histone phosphorylation pattern changes accompany holo- and macro-monocentromere evolution.
Yi-Tzu Kuo, Pavel Neumann, Jianyong Chen, Jörg Fuchs, Veit Schubert

Nat Commun· December 2025

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Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual Disability.
Ben Lundie, Sze Yee Chai, Alicia B Byrne, Dimitar Azmanov, John Christodoulou

J Mol Diagn· December 2025

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Allele, Diplotype and Phenotype Frequency Distribution of CYP2B6, CYP2C19 and CYP2D6 in Han Population in North China.
Yueyao Luan, Qixuan Sun, Yiyuan Wang, Binliang Tong, Liguang Duan

J Mol Diagn· December 2025

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Integrative multi-omics reveals microbial genomic variants driving altered host-microbe interactions in autism spectrum disorder.
Wanning Chen, Xinjun Wang, Ruixin Zhu, Wenxing Gao, Liwen Tao

Cell Rep Med· December 2025

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miRNA modules for precise, tunable control of gene expression.
Rongrong Du, Michael J Flynn, Karan Mahe, Monique Honsa, Bo Gu

Mol Cell· December 2025

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Detection and mapping of gm13, a QTL governing recessive resistance to rice gall midge.
Fugang Huang, Chunlan Teng, Huayu Huang, Haiyan Cheng, Guihua Zhou

J Plant Physiol· December 2025

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Characterization of gut microbiomes in rural Honduras reveals uncharacterized species and associations with human genetic variation.
Francesco Beghini, Ilana L Brito, Mark Gerstein, Nicholas A Christakis

Cell Rep· December 2025

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Genetic diversity and haplotype distribution of ticks across Europe, including new data from the Baltic States region.
Algimantas Paulauskas, Matas Galdikas, Asta Aleksandravičienė, Loreta Griciuvienė, Dalytė Mardosaitė-Busaitienė

J Vector Ecol· December 2025

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Genome sequence of dahlia mosaic virus revisited: molecular characterization and genetic diversity of DMV and dahlia common mosaic virus.
Prabu Gnanasekaran, Ying Zhai, Hanu R Pappu

Arch Virol· December 2025

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